Saiju Pyarajan

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

This study evaluates cancer-specific polygenic risk scores (PRS) across diverse ancestries and finds they predict corresponding cancers with varying effectiveness and limited pleiotropy.

This paper develops a germline polygenic score (PRSagg) to predict prostate cancer aggressiveness and validates it across multiple datasets.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper describes methylation profiling in the Million Veteran Program, identifies smoking-associated epigenetic signatures, and reports novel probe-smoking associations through ancestry-stratified EWAS.

This paper introduces a formal statistical replication analysis to reduce false positives in lung cancer GWAS, finding it significantly lowers false discovery rate and improves polygenic risk score efficiency.

This study identifies ten genetic loci associated with dry eye disease and finds significant genetic correlations with several comorbidities.

The paper identifies CXCL12 as a genetic driver of coronary artery anatomy variation through GWAS and mouse models, showing its role in fetal coronary development.

The paper identifies twelve novel genetic risk loci for lung cancer subtypes through multi-ancestry GWAS and shows smoking-independent genetic risk.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

The paper describes the design and pilot results of a study returning genetic results for familial hypercholesterolemia to MVP participants, showing a reduction in LDL-C after genetic counseling.

The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.

This study identifies 240 novel genetic loci associated with mosaic loss of chromosome Y through a multi-ancestry GWAS of the Million Veteran Program and UK Biobank.

The paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

The paper analyzes pharmacogenetic variant frequencies in the MVP dataset to represent US population diversity across different ancestries.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

The paper identifies 10 novel genetic loci associated with osteoarthritis in multi-ancestry analyses of 484,374 participants from MVP and UK Biobank, with some regions robust across populations.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study identifies genetic variants associated with severe COVID-19 and finds shared genetic architecture with complex diseases using EHR data from the Million Veteran Program.

The paper validates polygenic risk scores for schizophrenia, bipolar disorder, and depression using VA EHR data and shows their association with disease risk and hospitalization.

This study analyzes ancestry diversity changes in the Million Veteran Program over time and shows that refined ancestry modeling reduces population stratification in GWAS of height.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

The paper describes the design and performance of the MVP 1.0 custom Axiom array for genotyping a diverse cohort, achieving high-quality genetic data with substantial ancestral diversity.

This study identifies 14 genome-wide significant loci and a polygenic signature for myeloproliferative neoplasms, implicating hematopoietic stem cell function and self-renewal in disease risk.